Gene: Lrp6 MGI:1298218

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

low density lipoprotein receptor-related protein 6
skam26Jus Cd,  ska26,  skax26

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lrp6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly OMIM:619175
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Gout... OMIM:610947
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertri... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Pelvis-Shoulder Dysplasia
Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalan... ORPHA:2839
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Retinal coloboma, Microphthalmia, Hypogonadism, Rod-cone dystrophy OMIM:601794
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Insulin-resistant di... ORPHA:280356
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Elevated circulating... OMIM:232400
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hypoglycemia,... ORPHA:369
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Preaxial hand polydactyly, Large hands, Synophrys, Oral cleft, Cleft upper lip, D... ORPHA:85287
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Retinal coloboma, External genital hypoplasia, Microphthalmia, Hypogonadism, Rod-... ORPHA:363741
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Pes planus, Upslanted palpebral fissure, Large hands, Synophrys, Long toe, Cleft lip, Cleft palate OMIM:300263
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Osteoporosis OMIM:166710
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus OMIM:246650
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis OMIM:184300
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Recurrent patella... OMIM:216800
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Sprengel anomaly, Hemiverteb... OMIM:184400
Orofaciodigital Syndrome Ix
Accessory oral frenulum, Hand polydactyly, Toe syndactyly, Retinal coloboma, Camptodactyly, Abnor... OMIM:258865
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Folliculitis, Acne, Inflammation of the large intes... OMIM:300635
Absence of the sacrum, Spina bifida, Sirenomelia, Aplasia/Hypoplasia of the radius ORPHA:3169
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Scoliosis, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Carious teeth, ... OMIM:265800
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Prolonged neonatal jaundice, Congenit... ORPHA:446
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Cryptorchidism, Retinal coloboma, Micropenis, Intes... OMIM:244300
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circula... OMIM:615980
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Ha... ORPHA:3104
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:79085
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... ORPHA:66637
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Bresek Syndrome
Scoliosis, Convex nasal ridge, Growth delay, Hemivertebrae, Plagiocephaly, Intrauterine growth re... ORPHA:85284
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Vertebral fusion, Cleft palate, Microphthalmia, Anophthalmia, Micrognathia, Vertebral s... OMIM:221950
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Pierre-Robin sequence, Micrognathia, Short di... OMIM:311895
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Hepatomegaly, Jaundice, Hypertriglycerid... OMIM:603552
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Sirenomelia, Epicanthus, Non-midline cleft lip,... ORPHA:1848
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hype... OMIM:608600
Al Kaissi Syndrome
Long philtrum, Decreased head circumference, Wide nasal bridge, Smooth philtrum, Sacral dimple, H... OMIM:617694
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Pyle Disease
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Delayed eruption of teeth, Cariou... OMIM:265900
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Abnormal enzy... ORPHA:3111
Mmep Syndrome
Cryptorchidism, Oral cleft, Split foot, Microphthalmia, Triphalangeal thumb, Median cleft lip ORPHA:3434
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Bifid sternum, Myelomeningocele ORPHA:63260
Osteogenesis Imperfecta, Type Xii
Scoliosis, Wormian bones, Osteoporosis, Delayed eruption of teeth, Narrow mouth, Midface retrusio... OMIM:613849
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Low posterior hairlin... ORPHA:2916
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Attached earlobe, Hi... ORPHA:1327
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Short philtrum, Overlapping toe, Camptodactyly, Upslanted palpebral fissure, Shor... OMIM:300963
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Trichodentoosseous Syndrome
Abnormal hair morphology, Taurodontia, Frontal bossing, Dolichocephaly, Increased bone mineral de... OMIM:190320
Hyperlordosis, Rocker bottom foot, Spina bifida, Mandibular aplasia, Holoprosencephaly, Rhizomeli... ORPHA:63259
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase OMIM:614582
Brachydactyly, Type B1
Hypoplastic sacrum, Wide anterior fontanel, Anonychia, Camptodactyly, Hemivertebrae, Vertebral fu... OMIM:113000
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert... OMIM:606721
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... OMIM:182940
Gorlin Syndrome
Scoliosis, Carious teeth, Frontal bossing, Mandibular prognathia, Hemivertebrae, Vertebral fusion... ORPHA:377
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Elbow dislocation, Rhizomelia, Upslanted palpebral fissure, Flattened epiphysis, Cle... ORPHA:166016
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Micrognathia, Hand oligodactyly, Cleft palate OMIM:172880
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Microphthalmia, Syndromic 8
Cryptorchidism, Blepharophimosis, Oral cleft, Short palpebral fissure, Split foot, Microphthalmia... OMIM:601349
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Ambiguous genitalia, Camptodactyly, Limb undergrowth, Cleft upper lip, Cleft... OMIM:601016
Symbrachydactyly Of Hands And Feet
Scoliosis, Vertebral segmentation defect, Abnormality of the humeroulnar joint ORPHA:1570
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microphthalmia, Coloboma OMIM:251505
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality, Slender long bone, Spina bifida occulta... ORPHA:2840
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Ro... OMIM:615983
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal radius, Long ph... ORPHA:2756
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Upper limb asymmetry, Pec... ORPHA:64755
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Microphthalmia, Coloboma OMIM:613094
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Iris coloboma, Bilateral cleft lip and palate, Non-midline cleft ... ORPHA:1104
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Gluteal Muscles, Absence Of
Scoliosis, Optic nerve hypoplasia, Spina bifida occulta OMIM:231970
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Biemond Syndrome Type 2
Coloboma, Preaxial polydactyly, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypog... ORPHA:141333
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertr... ORPHA:435660
Microphthalmia With Limb Anomalies
Sandal gap, Anophthalmia, Downslanted palpebral fissures, High palate, Postaxial hand polydactyly... OMIM:206920
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Cardiom... OMIM:255120
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Toe syndactyly, Coloboma, Abnormal oral frenulum morphol... ORPHA:1617
Intellectual Disability, Wolff Type
Camptodactyly of finger, Cryptorchidism, Broad thumb, Thick lower lip vermilion, Microretrognathi... ORPHA:3080
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Downturned corners of mouth, Overlapping toe, Microretrognathia, Retinal coloboma,... OMIM:618571
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
White Forelock With Malformations
Finger syndactyly, Joint hyperflexibility, Sprengel anomaly, Spina bifida occulta, Abnormality of... ORPHA:2475
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Flexion contracture, Fused thoracic vertebrae, Antecubital pterygiu... OMIM:618469
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Cerebellofaciodental Syndrome
Scoliosis, Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngea... OMIM:616202
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Broad palm, Oral cleft, Acromelia, Cleft upper lip, Gonadal dysgenesis, Broad foot OMIM:233430
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Oligodontia, Bulbous nose, Spina bifida occulta, High, narrow palate, Micrognathia, Sh... ORPHA:1787
Coffin-Siris Syndrome 3
Scoliosis, Macroglossia, Sparse hair, Hirsutism, Wide mouth, Long eyelashes, Sparse scalp hair, T... OMIM:614608
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Postaxial hand polydactyly, Talipes, Holopros... ORPHA:945
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Pancr... ORPHA:435651
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Limb undergrowt... ORPHA:177
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Retinal coloboma, Long foot, Short sternum... OMIM:157980
Bardet-Biedl Syndrome 7
Polydactyly, Rod-cone dystrophy, External genital hypoplasia OMIM:615984
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Dens in dente, Low posterior hairline, Webbed neck, Mandibu... OMIM:263540
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Sparse hair, Taurodontia, Fron... ORPHA:1515
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Highly arched eyebrow, Smooth philtrum, Synophrys, Hemivertebrae, Thin upper lip v... OMIM:614701
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Retinal coloboma, Holoprosencephaly, Iris ... OMIM:184705
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Short ribs, Cleft pal... OMIM:616546
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Preaxial polydactyly, Iris coloboma ORPHA:2921
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Rosselli-Gulienetti Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Sparse eyelashes, Anodontia, Hypodonti... OMIM:225000
Verheij Syndrome
Scoliosis, Long philtrum, Short nose, Growth delay, Hemivertebrae, Vertebral fusion, Thin upper l... OMIM:615583
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Tracheal calcification, Postnatal growth retardation, Hemiverteb... OMIM:302960
46,Xx Sex Reversal 4
Ambiguous genitalia, Clitoral hypertrophy, Micropenis, Penoscrotal hypospadias OMIM:617480
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmi... OMIM:611638
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Open bite, Carious teeth, Convex nasal ridge, Low posterior hairline, Premature grayin... ORPHA:2617
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Cryptorchidism, Tarsal synostosis, Narrow mouth, Microretrognathia, Aplasia/Hypopla... ORPHA:1307
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Finger s... ORPHA:2311
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Eczema, Cholelithiasis OMIM:177000
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica... ORPHA:93320
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Ovoid vertebral bodies, Genu varum, Hyperconvex vertebral body endplates, Hypoplasia o... OMIM:184255
Bardet-Biedl Syndrome 6
Polydactyly, External genital hypoplasia, Retinal dystrophy, Syndactyly, Hypospadias, Rod-cone dy... OMIM:605231
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:615381
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent sinusitis, Colitis, Hypertriglyceridemia,... OMIM:613101
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Abnormality o... ORPHA:93351
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... ORPHA:2345
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Three M Syndrome 1
Hyperlordosis, Joint hypermobility, Increased vertebral height, Scapular winging, Short thorax, H... OMIM:273750
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Maxillary later... OMIM:300431
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes mellitus ORPHA:181393
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Increased bone mineral density OMIM:265880
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Coloboma, Camptodactyly, Hypoplas... OMIM:136760
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology, Cleft palate ORPHA:294975
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Aarskog-Scott Syndrome
Cryptorchidism, Pes planus, Oral cleft, Downslanted palpebral fissures, Broad foot, Long philtrum... ORPHA:915
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Kyphosis, Maxillary later... OMIM:300602
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Lumbar hyperlordos... OMIM:169550
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Pes planus, Iris coloboma, Sandal gap, Absent radius, Spina bifida occulta... OMIM:607323
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Lacrimal duct aplasia, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyl... DECIPHER:46
Neuronal Intranuclear Inclusion Disease
Scoliosis, Optic atrophy, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Hartsfield Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Ptosis, Microphthalmia, Loba... ORPHA:2117
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Fryns Macrocephaly
Postnatal macrocephaly, Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of p... OMIM:600302
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Bardet-Biedl Syndrome 11
Polydactyly, Hypogonadism, Retinopathy OMIM:615988
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Cryptorchidism, Dental crowding, High palate, Epicanthus, Radial dev... OMIM:141750
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Almond-shaped palpebral fissure, Downturned corners of mouth, Pes planus, Thin uppe... ORPHA:521308
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Hand polydactyly, Retinal coloboma, Aganglionic megacolon, Iris coloboma, ... ORPHA:220493
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Kbg Syndrome
Scoliosis, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent open anterior fo... ORPHA:2332
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... OMIM:603546
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Long philtrum, Spina bifida, Small hypothenar eminence, Camptodactyly, Joi... OMIM:211960
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Craniosynostosis, Arthrogryposis multiplex congenita, Tarsal synost... OMIM:178110
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Tibial Hemimelia
Radial club hand, Cryptorchidism, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus... ORPHA:93322
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia, Sensorineural hearing impa... OMIM:166750
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Unilateral microphthalmos, Hirsutism, Bilateral microphthalmos, Sacral dimple, Hemive... OMIM:619318
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Pectus carinatum, Kyphosis, Flattened proximal radial epiphyses, Ba... OMIM:271530
Braddock Syndrome
Scoliosis, Overfolded helix, Micrognathia, Pulmonary fibrosis, Hemivertebrae, Posteriorly rotated... ORPHA:52047
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Abnormality of the dentition, Retinal degeneration, External genital... OMIM:615982
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Short distal phalanx of fing... ORPHA:79500
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Cleft palate, Microphthalmia, Cleft upper lip, Anophthal... OMIM:613885
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Abnormal form of the vertebral bodies, Ove... ORPHA:2759
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Macroglossia, Umbilical hernia, Protruding tongue, Cleft palate, Bifid uvula, Bra... OMIM:612938
Brachyolmia Type 2
Platyspondyly OMIM:613678
Joubert Syndrome 1
Chorioretinal coloboma, Macroglossia, Postaxial hand polydactyly, Highly arched eyebrow, Epicanth... OMIM:213300
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Cleft palate, Talipes equinovarus, Micrognathia OMIM:616570
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short ribs, Microglossia, Cleft palate, Hip dislocation, Micrognathia... OMIM:241800
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum OMIM:608361
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Epicanthus, Unilateral cleft lip, Hypospadias, Brachydactyly ORPHA:1919
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Short philtrum, Delayed eruption of teeth, Sensorineural hearing imp... ORPHA:71267
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:264580
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Cervical spina bifida, Narrow palpebral fissure, Bilateral microphthalmos... OMIM:600122
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Broad thumb, Sparse eyebrow, Upslanted palpebral fissure, 2-3 toe syndacty... OMIM:600987
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Narrow mouth, Forearm undergrowth, Absent radius, Short pa... OMIM:251230
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatom... ORPHA:528
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphos... ORPHA:3219
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Polycystic li... OMIM:174050
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Abnormality of body weight, Decreased body weight, ... ORPHA:314811
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Short nose, Frontal bossing, Joint hyperflexibility, Everted lower... ORPHA:1695
Cofs Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Micrognathia, Everted lower lip verm... ORPHA:1466
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Short philtrum, Narrow mouth, Overlapping toe, Absent forearm, Micrognathia, High p... OMIM:201170
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... OMIM:601165
Bardet-Biedl Syndrome 12
Polydactyly, Hypogonadism, Rod-cone dystrophy OMIM:615989
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short thorax, Kyphosis, Reduced bone mineral density, Spina bifida occulta, Short neck ORPHA:2983
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Aplasia/Hypoplasia of the radius, Non-midline cleft lip, Anencephaly, Ectopic anus,... ORPHA:2476
Isolated Hemihyperplasia
Scoliosis, Myelomeningocele, Asymmetry of the thorax ORPHA:2128
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Hyperbilirubinemia, Cholestasis OMIM:609734
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Micrognathia, Split hand,... ORPHA:1406
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Poliosis, Patchy alopecia, Short mandibular rami, Dental mal... OMIM:141300
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Oligodontia, Genu valgum, Proportionate short stature, Joint contracture of the 5t... OMIM:601668
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Ptosis, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Cerebrofaciothoracic Dysplasia
Scoliosis, Low posterior hairline, Short nose, Midface retrusion, Low-set, posteriorly rotated ea... ORPHA:1394
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Frank-Ter Haar Syndrome
Scoliosis, Camptodactyly of finger, Delayed eruption of teeth, Osteolysis, Short philtrum, Beakin... ORPHA:137834
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Sparse eyebrow, Frontal bossing, Abnormality of the hairline, Smooth philtrum, Hemiver... ORPHA:370079
Momo Syndrome
Wide nasal base, Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodonti... ORPHA:2563
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Coloboma, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip and palate, Amel... OMIM:601357
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma OMIM:613703
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hype... ORPHA:2089
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Pectus carinatum, Kyph... OMIM:259450
Bardet-Biedl Syndrome 22
Polydactyly, Hypogonadism, Rod-cone dystrophy OMIM:617119
Temtamy Syndrome
Chorioretinal coloboma, Thick lower lip vermilion, Micrognathia, Pes planus, Abnormal palate morp... ORPHA:1777
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Abnormal dental enamel morphology, Toe syndactyly, Radiou... ORPHA:3258
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Holoprosencephaly, Upslanted palpebral fissure, Microphthalmia, Cleft upper lip, ... OMIM:612530
Hallermann-Streiff Syndrome
Scoliosis, Joint hypermobility, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth... OMIM:234100
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Postnatal growth retardation, Hemivertebrae, Hi... OMIM:213980
Kleefstra Syndrome 1
Cryptorchidism, Macroglossia, Micropenis, Everted lower lip vermilion, Natal tooth, Upslanted pal... OMIM:610253
Developmental And Epileptic Encephalopathy 80
Long philtrum, Micrognathia, High palate, Upslanted palpebral fissure, Wide mouth, Smooth philtru... OMIM:618580
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturne... ORPHA:2107
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Broad thumb, Aplasia/Hypoplasia of the eyebrow, Abnormality of epiphysis... ORPHA:1784
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Incre... OMIM:613982
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Platyspondyly, Dislocated radial head, Camptodactyly of finger, Delayed... OMIM:612350
3C Syndrome
Scoliosis, Death in infancy, Postnatal growth retardation, Hemivertebrae, Oral cleft, High, narro... ORPHA:7
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Ritscher-Schinzel Syndrome 1
Low posterior hairline, Hemivertebrae, Prominent occiput, Brachycephaly, Cleft palate, Intrauteri... OMIM:220210
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Acrofacial Dysostosis, Catania Type
Short palm, Single transverse palmar crease, Spina bifida occulta OMIM:101805
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Pancreatitis, Diabetes mel... ORPHA:79084
Distal Monosomy 7Q36
Cryptorchidism, Micrognathia, Holoprosencephaly, Upslanted palpebral fissure, Wide mouth, Non-mid... ORPHA:1636
Premature Aging Syndrome, Penttinen Type
Scoliosis, Wormian bones, Thin vermilion border, Delayed eruption of teeth, Sparse hair, Thin cal... OMIM:601812
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae ORPHA:3456
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Congenital finger flexion contractures, Open mouth, Limite... ORPHA:166108
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Open mouth, Downturned corners of mouth, Thick lower l... ORPHA:870
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Abnormality of the nail, Obliteration of the calvarial diploe, Taurodontia, A... ORPHA:3352
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Absent frontal sinuses, Widely-spaced maxillary central incisors, M... OMIM:301040
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Pear-shaped nose, Carious teeth, Narrow palate, Accelerated bone age after puberty, Le... OMIM:190350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormal eyelid morphology, Aplasia/Hypoplasia of the eyebrow, Micrognat... ORPHA:1794
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Long philtrum, Pear-shaped nose, Sparse hair, Accelerated bone age after puberty, Dent... OMIM:190351
Ring Chromosome 22 Syndrome
Azoospermia, 2-3 toe syndactyly, Epicanthus, Large hands, Thick vermilion border, Protruding tong... ORPHA:1446
Orofaciodigital Syndrome Viii
Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Telecanthus, Median cleft lip OMIM:300484
Blepharocheilodontic Syndrome 1
Ectropion of lower eyelids, Conical tooth, Hypodontia, Neural tube defect, Clinodactyly, Anal atr... OMIM:119580
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Coloboma, Unilateral ptosis, Pes planus, Iris coloboma, Abnormality of the optic dis... ORPHA:508498
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, C... OMIM:602557
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Monosomy 18P
Carious teeth, Abnormality of the antihelix, Downturned corners of mouth, Short neck, Low posteri... ORPHA:1598
Autosomal Recessive Amelia
Cryptorchidism, Acromelia of the lower limbs, Scrotal hypoplasia, Amelia involving the upper limb... ORPHA:1027
Cryptorchidism, Macroglossia, Ambiguous genitalia, Narrow mouth, Finger syndactyly, Micrognathia,... ORPHA:3376
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Slow-growing hair, Vertebral hyperos... OMIM:164200
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Tooth age... ORPHA:2722
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Ele... ORPHA:2088
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Micrognat... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine aminotransferas... OMIM:619386
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of ... ORPHA:234
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Meningocele, Aplasia/Hypoplasia of the thu... ORPHA:3265
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Orofaciodigital Syndrome Xiv
Cryptorchidism, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Aplasia of the epiglotti... OMIM:615948
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Abnormal form o... ORPHA:2876
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Ridged nail, Bone pain, Abnorm... ORPHA:763
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Osteoglosphonic Dysplasia
Scoliosis, Craniosynostosis, Abnormal bone ossification, Abnormal form of the vertebral bodies, R... ORPHA:2645
Kapur-Toriello Syndrome
Retinal coloboma, Intestinal malrotation, Iris coloboma, Oral cleft, Hypoplastic labia majora, Mi... ORPHA:2328
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Frontal bossing, Joint hyperflex... ORPHA:166272
Blepharonasofacial Malformation Syndrome
Long philtrum, Cryptorchidism, Blepharophimosis, Finger syndactyly, Abnormal eyelash morphology, ... ORPHA:1252
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Unilateral narrow palpebral fissure, Narrow palpebral fiss... OMIM:602342
Pierpont Syndrome
Scoliosis, Uplifted earlobe, Thin vermilion border, Joint laxity, Macrotia, Everted lower lip ver... ORPHA:487825
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Cryptorchidism, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, ... ORPHA:1350
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Autosomal Dominant Robinow Syndrome
Scoliosis, Open bite, Oligodontia, Downturned corners of mouth, Elbow dislocation, Ridged fingern... ORPHA:3107
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Abnormality of the ribs, Short femur, Radioulnar synostosis, Sprengel a... ORPHA:1988
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Abnormality of the antihelix, Abnormality of the el... ORPHA:1005
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Dental crowding, Triangular mouth, Micrognathia, Short neck, Depre... OMIM:268310
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Iris coloboma, Tooth agenesis, Clinodactyly, Cleft upper lip, Cleft palate, Hypog... OMIM:147950
Zechi-Ceide Syndrome
Oligodontia, Short metatarsal, Blepharophimosis, Long foot, Narrow palpebral fissure, Short dista... OMIM:612916
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morphology, Micrognathia... ORPHA:1277
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Trisomy 8Q
Camptodactyly of finger, Deep palmar crease, Cryptorchidism, Micrognathia, Everted lower lip verm... ORPHA:1752
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice, ... OMIM:605479
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Joint laxity, Wide anterior fontan... OMIM:225410
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Hypertriglyceridemia, In... ORPHA:444490
Papillorenal Syndrome
Lens luxation, Retinal coloboma, Orbital cyst, Chorioretinal atrophy, Morning glory anomaly, Micr... OMIM:120330
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Genu valgum, Cubitus valgus, Carious teeth, Wide anterior fontanel, Den... OMIM:269300
Anauxetic Dysplasia 2
Hyperlordosis, Cubitus valgus, Macroglossia, Small nail, Sparse hair, Midface retrusion, Ovoid ve... OMIM:617396
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Ankyloblepharon, Absent eyebrow, Bicornuate uterus, Absent radius, Short... OMIM:263650
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Lambdoidal craniosynostosis, Optic nerve hypoplasia, Spina bifida occulta, Bicoronal s... OMIM:618736
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Craniosynostosis, Cleft palate, Intrauterine growt... OMIM:600252
Mosaic Trisomy 9
Scoliosis, Bulbous nose, Large fontanelles, Elbow dislocation, Hemivertebrae, High palate, Microg... ORPHA:99776
Cyanosis And Hepatic Disease
Abnormal abdomen morphology, Hepatitis OMIM:219400
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased circulating cortisol level, Hyponatremia,... ORPHA:199296
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Smith-Magenis Syndrome
Scoliosis, Open mouth, Mandibular prognathia, Abnormal tracheobronchial morphology, Delayed puber... ORPHA:819
Bardet-Biedl Syndrome 10
Polydactyly, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Large font... ORPHA:1452
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large fontanelles, Increased bone mineral density, Spina bifida occulta, High, narrow ... ORPHA:2780
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Platyspondyly, Camptodactyly of finger, Osteoporosis, Enlarged interphalang... OMIM:208230
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Transient hyperlipidemia ORPHA:156
Hypercholesterolemia, Xanthelasma, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Upslanted palpebral fissure, Preaxia... OMIM:617927
Trisomy 4P
Scoliosis, Camptodactyly of finger, Carious teeth, Low anterior hairline, Radial club hand, Abnor... ORPHA:1738
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Camptodactyly of finger, Hyperlordosis, Long philtrum, Sparse hair, Frontal bossing, M... ORPHA:77258
Spinocerebellar Ataxia, Autosomal Recessive 20
Scoliosis, Long philtrum, Macroglossia, Delayed eruption of teeth, Wide nasal base, Dental crowdi... OMIM:616354
Mohr Syndrome
Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, Micrognathia... OMIM:252100
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Juberg-Hayward Syndrome
Limited elbow extension, Highly arched eyebrow, Abnormality of the radial head, Aplasia/Hypoplasi... OMIM:216100
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Punctate vertebral calcifications, Myelomeningocele, Short distal phalanx o... ORPHA:1914
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, Irregular epiphyses, Spinal cord ... OMIM:222600
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Micrognathia, Depressed ... ORPHA:97360
Cryptorchidism, Polydactyly, Natal tooth, Scrotal hypoplasia, Postaxial polydactyly, Sandal gap, ... OMIM:612651
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Agenesis of permanent teeth, Ridged nail, Concave nail, Micro... OMIM:189500
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Low-set, p... ORPHA:1133
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Pancreatitis, Splenomegaly, Type II diabetes me... ORPHA:90970
Microphthalmia With Limb Anomalies
Cryptorchidism, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilater... ORPHA:1106
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Joint hyperflexibility, Slender long bone, Reduced bone mineral density, Spina bi... ORPHA:1185
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Thin vermilion border, Narrow mouth, Macrotia, Facial hypertri... OMIM:600118
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Acrocraniofacial Dysostosis
Craniosynostosis, Choanal atresia, Sensorineural hearing impairment, Spina bifida occulta, Abnorm... ORPHA:949
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Odontochondrodysplasia 1
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Biconvex vertebral bodies, Long phil... OMIM:184260
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Macular coloboma, Abnormality of retinal pigmentation, Umbilical hernia ORPHA:2196
Poland Syndrome
Scoliosis, Absent hand, Split hand, Abnormal sternum morphology, Hemivertebrae, Unilateral brachy... ORPHA:2911
Craniolenticulosutural Dysplasia
Scoliosis, Thin vermilion border, Carious teeth, Hypoplasia of teeth, Large fontanelles, Coarse h... ORPHA:50814
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Macrotia, Bilateral cleft lip and palate, Neural tube defect... OMIM:600776
Cockayne Syndrome Type 2
Scoliosis, Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth,... ORPHA:90322
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Short philtrum, Bulbous nose, Broad nasal tip, Everted lower lip vermilion... ORPHA:411986
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Recurrent otitis media, Hypertriglyce... OMIM:616222
48,Xxyy Syndrome
Scoliosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth... ORPHA:10
Hydrolethalus Syndrome 2
Micrognathia, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Molar tooth sign on MRI, ... OMIM:614120
Progressive Non-Infectious Anterior Vertebral Fusion
Scoliosis, Thin vermilion border, Short philtrum, Abnormality of the vertebral column, Kyphosis, ... ORPHA:2062
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Camptodactyly of finger, Thin vermilion border, Shoulder flexion... OMIM:619110
Down Syndrome
Macroglossia, Broad palm, Upslanted palpebral fissure, Aganglionic megacolon, Hypoplastic iliac w... OMIM:190685
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft upper lip, Cleft palate OMIM:106250
Congenital Sialidosis Type 2
Polydactyly, Yellow/white lesions of the retina, Umbilical hernia, Protruding tongue, Gingival ov... ORPHA:93400
Micro Syndrome
Cryptorchidism, Short philtrum, Abnormality of retinal pigmentation, Retinal coloboma, Clitoral h... ORPHA:2510
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Aniridia, Absent hand, Finger syndactyly, Split hand ORPHA:2440
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Optic disc pallor, Spina bifida occulta, Tethered cord OMIM:615281
7Q11.23 Microdup